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  1. Article ; Online: Quantitative muscle ultrasound in adult spinal muscular atrophy. A pilot study.

    Pelosi, Luciana / Rodrigues, Miriam / Zhong, Cathy / Patel, Shilpan / Roxburgh, Richard

    Muscle & nerve

    2023  Volume 69, Issue 3, Page(s) 349–353

    Abstract: ... to-subcutaneous (M:S) thickness and echogenicity ratios were also calculated. A mean value across all muscles ... than in controls; M:S echogenicity ratio was significantly increased and M:S thickness ratio reduced ...

    Abstract Introduction/aims: Muscle ultrasound has been investigated in children with spinal muscular atrophy (SMA) and proposed as a potential biomarker of disease severity. We studied the ultrasound properties in adults with SMA to see whether they also have potential as markers of disease severity in older patients.
    Methods: Thickness and quantitative echogenicity of muscle and subcutaneous tissue were compared between eight prospectively recruited adult patients with SMA and eight age, sex and body mass index-matched controls. Measurements were made in the dominant deltoid, biceps, triceps, forearm extensors, first dorsal interosseous, quadriceps, tibialis anterior, and gastrocnemius muscles. The muscle-to-subcutaneous (M:S) thickness and echogenicity ratios were also calculated. A mean value across all muscles as well as the individual values for each muscle were then calculated for each parameter in each subject and compared between the two groups. Significance was set at 0.05 after Bonferroni correction.
    Results: In the SMA patients, mean muscle thickness was significantly smaller (1.3 vs. 1.9 cm), muscle echogenicity higher (106 vs. 67 on the grayscale level), and subcutaneous thickness larger (0.9 vs. 0.3 cm) than in controls; M:S echogenicity ratio was significantly increased and M:S thickness ratio reduced in the patients. The most abnormal scores were found in the nonambulatory patients and the least abnormal in the ambulatory patients.
    Discussion: Ultrasound can detect and quantify the severity of muscle atrophy and structure in adult SMA, suggesting a potential role as a marker of disease severity, which will require validation by larger studies.
    MeSH term(s) Child ; Adult ; Humans ; Aged ; Pilot Projects ; Muscular Atrophy, Spinal/diagnostic imaging ; Muscle, Skeletal/diagnostic imaging ; Ultrasonography ; Quadriceps Muscle
    Language English
    Publishing date 2023-12-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.28034
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Potential PINK1 Founder Effect in Polynesia Causing Early-Onset Parkinson's Disease.

    Patel, Shilpan G / Buchanan, Christina M / Mulroy, Eoin / Simpson, Mark / Reid, Hannah A / Drake, Kylie M / Merriman, Marilyn E / Phipps-Green, Amanda / Cadzow, Murray / Merriman, Tony R / Anderson, Neil E / Child, Nicholas / Barber, P Alan / Roxburgh, Richard H

    Movement disorders : official journal of the Movement Disorder Society

    2021  Volume 36, Issue 9, Page(s) 2199–2200

    MeSH term(s) Female ; Founder Effect ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Parkinson Disease/genetics ; Polynesia ; Protein Kinases/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27) ; Protein Kinases (EC 2.7.-) ; PTEN-induced putative kinase (EC 2.7.11.1)
    Language English
    Publishing date 2021-06-22
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.28665
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Role of radiology in the management of primary aldosteronism.

    Patel, Shilpan M / Lingam, Ravi K / Beaconsfield, Tina I / Tran, Tan L / Brown, Beata

    Radiographics : a review publication of the Radiological Society of North America, Inc

    2007  Volume 27, Issue 4, Page(s) 1145–1157

    Abstract: The diagnosis of primary aldosteronism, the most common form of secondary hypertension, is based on clinical and biochemical features. Although radiology plays no role in the initial diagnosis, it has an important role in differentiating between the two ... ...

    Abstract The diagnosis of primary aldosteronism, the most common form of secondary hypertension, is based on clinical and biochemical features. Although radiology plays no role in the initial diagnosis, it has an important role in differentiating between the two main causes of primary aldosteronism: aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH). This distinction is important because APAs are generally managed surgically and BAH medically. Adrenal venous sampling is considered the standard of reference for determining the cause of primary aldosteronism but is technically demanding, operator dependent, costly, and time consuming, with a low but significant complication rate. Other imaging modalities, including computed tomography, magnetic resonance imaging, and adrenal scintigraphy, have also been used to determine the cause of primary aldosteronism. Cross-sectional imaging has traditionally focused on establishing the diagnosis of an APA, with that of BAH being one of exclusion. A high specificity for detecting an APA is desirable, since it will avert unnecessary surgery in patients with BAH. However, an overreliance on cross-sectional imaging can lead to the incorrect treatment of affected patients, mainly due to the wide variation in the reported diagnostic performance of these modalities. A combination of modalities is usually required to confidently determine the cause of primary aldosteronism. The quest for optimal radiologic management of primary aldosteronism continues just over a half century since this disease entity was first described.
    MeSH term(s) Adult ; Aged ; Diagnosis, Differential ; Diagnostic Imaging/methods ; Female ; Humans ; Hyperaldosteronism/diagnosis ; Hypertension/diagnosis ; Image Enhancement/methods ; Male ; Middle Aged ; Practice Guidelines as Topic ; Practice Patterns, Physicians'
    Language English
    Publishing date 2007-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 603172-9
    ISSN 1527-1323 ; 0271-5333
    ISSN (online) 1527-1323
    ISSN 0271-5333
    DOI 10.1148/rg.274065150
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Successful treatment of acute haemorrhagic cytomegalovirus colitis with ganciclovir in an individual without overt immunocompromise.

    Patel, Shilpan M / Cohen, Patricia / Pickering, Matthew C / Gazzard, Brian G / Andreyev, Jervoise

    European journal of gastroenterology & hepatology

    2003  Volume 15, Issue 9, Page(s) 1055–1060

    MeSH term(s) Acute Disease ; Antiviral Agents/therapeutic use ; Colitis/drug therapy ; Colitis/virology ; Cytomegalovirus Infections/drug therapy ; Ganciclovir/therapeutic use ; Gastrointestinal Hemorrhage/drug therapy ; Gastrointestinal Hemorrhage/virology ; Humans ; Immunocompetence ; Male ; Middle Aged
    Chemical Substances Antiviral Agents ; Ganciclovir (P9G3CKZ4P5)
    Language English
    Publishing date 2003-07-31
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1034239-4
    ISSN 1473-5687 ; 0954-691X
    ISSN (online) 1473-5687
    ISSN 0954-691X
    DOI 10.1097/00042737-200309000-00020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

    Bournazos, Adam M / Riley, Lisa G / Bommireddipalli, Shobhana / Ades, Lesley / Akesson, Lauren S / Al-Shinnag, Mohammad / Alexander, Stephen I / Archibald, Alison D / Balasubramaniam, Shanti / Berman, Yemima / Beshay, Victoria / Boggs, Kirsten / Bojadzieva, Jasmina / Brown, Natasha J / Bryen, Samantha J / Buckley, Michael F / Chong, Belinda / Davis, Mark R / Dawes, Ruebena /
    Delatycki, Martin / Donaldson, Liz / Downie, Lilian / Edwards, Caitlin / Edwards, Matthew / Engel, Amanda / Ewans, Lisa J / Faiz, Fathimath / Fennell, Andrew / Field, Michael / Freckmann, Mary-Louise / Gallacher, Lyndon / Gear, Russell / Goel, Himanshu / Goh, Shuxiang / Goodwin, Linda / Hanna, Bernadette / Harraway, James / Higgins, Megan / Ho, Gladys / Hopper, Bruce K / Horton, Ari E / Hunter, Matthew F / Huq, Aamira J / Josephi-Taylor, Sarah / Joshi, Himanshu / Kirk, Edwin / Krzesinski, Emma / Kumar, Kishore R / Lemckert, Frances / Leventer, Richard J / Lindsey-Temple, Suzanna E / Lunke, Sebastian / Ma, Alan / Macaskill, Steven / Mallawaarachchi, Amali / Marty, Melanie / Marum, Justine E / McCarthy, Hugh J / Menezes, Manoj P / McLean, Alison / Milnes, Di / Mohammad, Shekeeb / Mowat, David / Niaz, Aram / Palmer, Elizabeth E / Patel, Chirag / Patel, Shilpan G / Phelan, Dean / Pinner, Jason R / Rajagopalan, Sulekha / Regan, Matthew / Rodgers, Jonathan / Rodrigues, Miriam / Roxburgh, Richard H / Sachdev, Rani / Roscioli, Tony / Samarasekera, Ruvishani / Sandaradura, Sarah A / Savva, Elena / Schindler, Tim / Shah, Margit / Sinnerbrink, Ingrid B / Smith, Janine M / Smith, Richard J / Springer, Amanda / Stark, Zornitza / Strom, Samuel P / Sue, Carolyn M / Tan, Kenneth / Tan, Tiong Y / Tantsis, Esther / Tchan, Michel C / Thompson, Bryony A / Trainer, Alison H / van Spaendonck-Zwarts, Karin / Walsh, Rebecca / Warwick, Linda / White, Stephanie / White, Susan M / Williams, Mark G / Wilson, Meredith J / Wong, Wui Kwan / Wright, Dale C / Yap, Patrick / Yeung, Alison / Young, Helen / Jones, Kristi J / Bennetts, Bruce / Cooper, Sandra T

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 24, Issue 1, Page(s) 130–145

    Abstract: Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics ... ...

    Abstract Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).
    Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.
    Results: Informative RNA assay data were obtained for 96% of cases, enabling variant reclassification for 75% variants that can be used for genetic counseling (71%), to inform clinical care (32%) and prenatal counseling (41%). Variant-associated mis-splicing was highly reproducible for 28 cases with samples from ≥2 affected individuals or heterozygotes and 10 cases with ≥2 biospecimens. PCR amplicons encompassing another segregated heterozygous variant was vital for clinical interpretation of 22 of 79 variants to phase RNA splicing events and discern complete from partial mis-splicing.
    Conclusion: RNA diagnostics enabled provision of a genetic diagnosis for 64% of recruited cases. PCR-based RNA diagnostics has capacity to analyze 81.3% of clinically significant genes, with long amplicons providing an advantage over RNA sequencing to phase RNA splicing events. The Australasian Consortium for RNA Diagnostics (SpliceACORD) provide clinically-endorsed, standardized protocols and recommendations for interpreting RNA assay data.
    MeSH term(s) Adolescent ; Adult ; Child, Preschool ; Humans ; Mutation ; RNA/genetics ; RNA Splicing/genetics ; Sequence Analysis, RNA ; Whole Exome Sequencing
    Chemical Substances RNA (63231-63-0)
    Language English
    Publishing date 2021-11-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.09.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Radiation dose from volumetric helical perfusion CT of the thorax, abdomen or pelvis.

    Goh, Vicky / Dattani, Minaxi / Farwell, Joseph / Shekhdar, Jane / Tam, Emily / Patel, Shilpan / Juttla, Jaspal / Simcock, Ian / Stirling, James / Mandeville, Henry / Aird, Edwin / Hoskin, P

    European radiology

    2010  Volume 21, Issue 5, Page(s) 974–981

    Abstract: Purpose: To evaluate the radiation doses delivered during volumetric helical perfusion CT of the thorax, abdomen or pelvis.: Materials and methods: The dose-length product (DLP) and CT dose index (CTDIvol) were recorded and effective dose (E) ... ...

    Abstract Purpose: To evaluate the radiation doses delivered during volumetric helical perfusion CT of the thorax, abdomen or pelvis.
    Materials and methods: The dose-length product (DLP) and CT dose index (CTDIvol) were recorded and effective dose (E) determined for patients undergoing CT (4D adaptive spiral) for tumour evaluation. Image noise and contrast to noise (CNR) at peak enhancement were also assessed for quality.
    Results: Forty two consecutive examinations were included: thorax (16), abdomen (10), pelvis (16). Z-axis coverage ranged from 11.4 to 15.7 cm. Mean DLP was 1288.8 mGy.cm (range: 648 to 2456 mGy.cm). Mean CTDIvol was 96.2 mGy (range: 32.3 to 169.4 mGy). Mean effective dose was 19.6 mSv (range: 12.3 mSv to 36.7 mSv). In comparison mean DLP and effective dose was 885.2 mGy.cm (range: 504 to 1633 mGy.cm) and 13.3 mSV (range: 7.8 to 24.5 mSv) respectively for the standard staging CT thorax, abdomen and pelvis. Mean tumour CNR at peak enhancement was 1.87.
    Conclusion: The radiation dose imposed by perfusion CT was on average 1.5 times that of a CT thorax, abdomen and pelvis. The dose is not insubstantial, and must be balanced by the potential clinical utility of additional physiologic data. Further efforts towards dose reduction should be encouraged.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Cone-Beam Computed Tomography/methods ; Equipment Design ; Female ; Humans ; Male ; Middle Aged ; Neoplasms/diagnosis ; Neoplasms/diagnostic imaging ; Pelvis/diagnostic imaging ; Perfusion ; Phantoms, Imaging ; Radiation Dosage ; Radiography, Abdominal/methods ; Radiography, Thoracic/methods ; Tomography, Spiral Computed/methods
    Keywords covid19
    Language English
    Publishing date 2010-11-18
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1085366-2
    ISSN 1432-1084 ; 0938-7994 ; 1613-3749
    ISSN (online) 1432-1084
    ISSN 0938-7994 ; 1613-3749
    DOI 10.1007/s00330-010-1997-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Comparative testing of 5 nicotine systems: initial use and preferences.

    Schneider, Nina G / Olmstead, Richard E / Nides, Mitchell / Mody, Freny Vaghaiwalla / Otte-Colquette, Pamela / Doan, Kim / Patel, Shilpan

    American journal of health behavior

    2003  Volume 28, Issue 1, Page(s) 72–86

    Abstract: Objective: To test initial reactions to 5 nicotine treatments (NRTs: 2 and 4 mg gum, inhaler, nasal spray, tablet) in a crossover study (n=41).: Methods: Subjects used each medication on arising (1/2 day) and resumed smoking each afternoon. Subjects ... ...

    Abstract Objective: To test initial reactions to 5 nicotine treatments (NRTs: 2 and 4 mg gum, inhaler, nasal spray, tablet) in a crossover study (n=41).
    Methods: Subjects used each medication on arising (1/2 day) and resumed smoking each afternoon. Subjects rated (individually) and ranked (comparatively) treatments on use, reinforcement, withdrawal, craving, and preferences.
    Results: Overall preferences: inhaler (49%), 4 mg gum (24%), 2 mg gum (10%), 2 mg tablet (10%), nasal spray (7%). Overall results were consistent with ratings and rankings of individual characteristics of drugs.
    Conclusion: Subjects had varied reactions to NRTs that may affect initiation of cessation.
    MeSH term(s) Chewing Gum ; Cross-Over Studies ; Drug Administration Routes ; Female ; Humans ; Male ; Nicotine/administration & dosage ; Nicotine/therapeutic use ; Smoking Cessation/methods ; Smoking Cessation/psychology ; Substance Withdrawal Syndrome ; Surveys and Questionnaires ; Tablets ; Tobacco Use Disorder/drug therapy
    Chemical Substances Chewing Gum ; Tablets ; Nicotine (6M3C89ZY6R)
    Language English
    Publishing date 2003-09-24
    Publishing country United States
    Document type Clinical Trial ; Comparative Study ; Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1312417-1
    ISSN 1945-7359 ; 1087-3244 ; 0147-0353
    ISSN (online) 1945-7359
    ISSN 1087-3244 ; 0147-0353
    DOI 10.5993/ajhb.28.1.8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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